Sphingolipidosis disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: SPH010 MIFTS: 43	Sphingolipidosis Categories: Metabolic diseases, Rare diseases
Genes Tissues Related diseases Publications Pathways Drugs Expand all tables

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Aliases & Classifications for Sphingolipidosis

MalaCards integrated aliases for Sphingolipidosis:

Name: Sphingolipidosis ¹² ⁷⁶ ⁵³ ³⁷ ¹⁵

Sphingolipidoses ¹² ⁵³ ⁵⁵ ⁴⁴ ⁷³

Classifications:

MalaCards categories:
Global: Rare diseases Metabolic diseases

See all MalaCards categories (disease lists)

ICD10: ³³

Endocrine, nutritional and metabolic diseases

Metabolic disorders

Disorders of sphingolipid metabolism and other lipid storage disorders

Sphingolipidosis, unspecified

External Ids:

Disease Ontology ¹² DOID:1927

ICD10 ³³ E75.3

MeSH ⁴⁴ D013106

NCIt ⁵⁰ C117254

SNOMED-CT ⁶⁸ 58459009

KEGG ³⁷ H00423

UMLS ⁷³ C0037899

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Summaries for Sphingolipidosis

MalaCards based summary : Sphingolipidosis, also known as sphingolipidoses, is related to gaucher's disease and metachromatic leukodystrophy. An important gene associated with Sphingolipidosis is PSAP (Prosaposin), and among its related pathways/superpathways are Sphingolipid metabolism and Lysosome. The drugs Miglustat and Sofosbuvir have been mentioned in the context of this disorder. Affiliated tissues include brain, skin and kidney, and related phenotypes are Decreased viability and Decreased viability

Wikipedia : ⁷⁶ Sphingolipidoses (singular "sphingolipidosis") are a class of lipid storage disorders relating to... more...

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Related Diseases for Sphingolipidosis

Diseases related to Sphingolipidosis via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 82)

#	Related Disease	Score	Top Affiliating Genes
1	gaucher's disease	32.6	ARSA GBA GBA3 PSAP SCARB2
2	metachromatic leukodystrophy	32.1	ARSA GALC HEXA PSAP
3	tay-sachs disease	31.3	ARSA CTSA GLB1 HEXA HEXB PSAP
4	gaucher disease, type ii	30.2	GBA PSAP
5	infantile krabbe disease	30.0	GALC PSAP
6	gaucher disease, perinatal lethal	30.0	CTSA GBA HEXA
7	niemann-pick disease	30.0	GBA NPC1 NPC2 PSAP SMPD1
8	metachromatic leukodystrophy, late infantile form	30.0	ARSA PSAP
9	metachromatic leukodystrophy, juvenile form	30.0	ARSA PSAP
10	niemann-pick disease type c, severe perinatal form	30.0	NPC1 NPC2
11	niemann-pick disease, type a	30.0	NPC1 NPC2 SMPD1
12	niemann-pick disease type c, late infantile neurologic onset	30.0	NPC1 NPC2
13	metachromatic leukodystrophy, adult form	30.0	ARSA PSAP
14	niemann-pick disease type c, severe early infantile neurologic onset	30.0	NPC1 NPC2
15	niemann-pick disease type c, adult neurologic onset	30.0	NPC1 NPC2
16	niemann-pick disease type c, juvenile neurologic onset	30.0	NPC1 NPC2
17	krabbe disease	29.9	ARSA GALC PSAP
18	inherited metabolic disorder	29.9	ARSA GBA GBA3 GLA HEXA NPC1
19	niemann-pick disease, type b	29.9	HEXA NPC1 NPC2 SMPD1
20	niemann-pick disease, type c2	29.7	NPC1 NPC2 SMPD1
21	gaucher disease, type i	29.7	GBA GBA3 HEXA PSAP SCARB2
22	niemann-pick disease, type c1	29.7	NPC1 NPC2 PSAP SMPD1
23	lipid storage disease	29.0	ARSA GALC GBA GBA3 GLA GLB1
24	multiple sulfatase deficiency	11.4
25	fabry disease	11.4
26	sea-blue histiocyte disease	11.0
27	cerebral lipidosis	10.2	GLB1 HEXA
28	leukodystrophy	10.2	ARSA GALC PSAP
29	acid sphingomyelinase deficiency	10.1	NPC1 SMPD1
30	angiokeratoma	10.1	CTSA GLA
31	mannosidosis, alpha b, lysosomal	10.1	CTSA HEXA
32	neuraminidase deficiency	10.1	CTSA GLB1 PSAP
33	glycoproteinosis	10.1	CTSA GLB1 PSAP
34	galactosialidosis	10.0	CTSA GLB1
35	mucopolysaccharidosis, type vii	10.0	GLB1 HEXA
36	mucopolysaccharidosis iv	10.0	CTSA GLB1
37	sandhoff disease	10.0	HEXA HEXB NPC1
38	inclusion-cell disease	10.0	ARSA CTSA GLB1 PSAP
39	scheie syndrome	10.0	CTSA GLA GLB1 HEXA
40	gaucher disease, type iii	10.0
41	leukodystrophy, hypomyelinating, 3	10.0
42	leukoencephalopathy with vanishing white matter	10.0
43	leukodystrophy, hypomyelinating, 2	10.0
44	peripheral demyelinating neuropathy, central dysmyelination, waardenburg syndrome, and hirschsprung disease	10.0
45	gaucher disease, atypical, due to saposin c deficiency	10.0
46	leukodystrophy, hypomyelinating, 4	10.0
47	leukodystrophy, hypomyelinating, 6	10.0
48	leukodystrophy, hypomyelinating, 9	10.0
49	dementia	10.0	ARSA GBA NPC1 NPC2
50	fucosidosis	9.9	CTSA HEXA

Graphical network of the top 20 diseases related to Sphingolipidosis:

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Symptoms & Phenotypes for Sphingolipidosis

GenomeRNAi Phenotypes related to Sphingolipidosis according to GeneCards Suite gene sharing:

²⁶

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Decreased viability	GR00381-A-1	10.03	GLA SCARB2 SMPD1
2	Decreased viability	GR00381-A-2	10.03	SCARB2
3	Decreased viability	GR00381-A-3	10.03	SCARB2
4	Decreased viability	GR00402-S-2	10.03	ADPRH ARSA ASAH2 BECN1 CTSA GALC
5	no effect	GR00402-S-1	9.6	ADPRH ARSA ASAH2 BECN1 CTSA GALC

MGI Mouse Phenotypes related to Sphingolipidosis:

⁴⁶ (show all 14)

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	behavior/neurological	MP:0005386	10.41	ARSA BECN1 CTSA GALC GBA GLA
2	homeostasis/metabolism	MP:0005376	10.39	ARSA ASAH2 BECN1 CTSA GALC GBA
3	growth/size/body region	MP:0005378	10.37	BECN1 CTSA GALC GBA GLA GLB1
4	immune system	MP:0005387	10.31	ADPRH ARSA BECN1 CTSA GALC GBA
5	cellular	MP:0005384	10.29	BECN1 CTSA GALC GBA GLA GLB1
6	hematopoietic system	MP:0005397	10.29	ARSA BECN1 CTSA GALC GBA GLB1
7	mortality/aging	MP:0010768	10.24	BECN1 CTSA GALC GBA GLA GLB1
8	cardiovascular system	MP:0005385	10.22	BECN1 CTSA GALC GBA GLA MCOLN1
9	nervous system	MP:0003631	10.17	ARSA BECN1 GALC GBA GLA GLB1
10	liver/biliary system	MP:0005370	10.14	CTSA GALC GBA GLA GLB1 HEXA
11	renal/urinary system	MP:0005367	9.96	CTSA GALC GLA GLB1 HEXA HEXB
12	reproductive system	MP:0005389	9.76	BECN1 CTSA GLB1 HEXA HEXB NPC1
13	respiratory system	MP:0005388	9.5	CTSA GBA NPC1 NPC2 PSAP RAB8A
14	vision/eye	MP:0005391	9.23	GALC GLA HEXA HEXB MCOLN1 NPC1

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Drugs & Therapeutics for Sphingolipidosis

Drugs for Sphingolipidosis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 178)

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

Miglustat

Approved

Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable

72599-27-0

51634

Sofosbuvir

Approved

Phase 4

1190307-88-0

45375808

Ledipasvir

Approved

Phase 4

1256388-51-8

67505836

Ergocalciferol

Approved, Nutraceutical

Phase 4,Not Applicable

50-14-6

5280793

Vitamin D

Approved, Nutraceutical, Vet_approved

Phase 4,Phase 2

1406-16-2

1-Deoxynojirimycin

Experimental, Investigational

Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable

19130-96-2

1374

Bone Density Conservation Agents

Phase 4,Phase 2,Not Applicable

Calciferol

Phase 4,Phase 2,Not Applicable

Ergocalciferols

Phase 4,Not Applicable

Micronutrients

Phase 4,Phase 2,Not Applicable

Vitamins

Phase 4,Phase 2,Not Applicable

Vitamin D2

Phase 4,Not Applicable

Trace Elements

Phase 4,Phase 2,Not Applicable

Glycoside Hydrolase Inhibitors

Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable

Antiviral Agents

Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable

Hypoglycemic Agents

Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable

Anti-Infective Agents

Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable

Anti-HIV Agents

Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable

Anti-Retroviral Agents

Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable

Cardiac Glycosides

Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable

Hepatitis C Antibodies

Phase 4

Ledipasvir, sofosbuvir drug combination

Phase 4

Coal tar

Approved

Phase 3,Phase 2

8007-45-2

Eliglustat

Approved

Phase 3,Phase 2,Phase 1,Not Applicable

491833-29-5

23652731

tannic acid

Approved

Phase 3,Phase 2

Benzocaine

Approved, Investigational

Phase 3,Phase 2

94-09-7, 1994-09-7

2337

Methylprednisolone hemisuccinate

Approved

Phase 2, Phase 3

2921-57-5

Cyclophosphamide

Approved, Investigational

Phase 2, Phase 3

6055-19-2, 50-18-0

2907

Methylprednisolone

Approved, Vet_approved

Phase 2, Phase 3

83-43-2

6741

Prednisolone

Approved, Vet_approved

Phase 2, Phase 3

50-24-8

5755

Prednisolone phosphate

Approved, Vet_approved

Phase 2, Phase 3

302-25-0

Busulfan

Approved, Investigational

Phase 2, Phase 3

55-98-1

2478

Glycerol

Approved, Investigational

Phase 2, Phase 3

56-81-5

753

Prednisolone hemisuccinate

Experimental

Phase 2, Phase 3

2920-86-7

Pharmaceutical Solutions

Phase 3,Phase 2,Phase 1

Prednisolone acetate

Phase 2, Phase 3

Immunosuppressive Agents

Phase 2, Phase 3,Not Applicable

Methylprednisolone acetate

Phase 2, Phase 3

Alkylating Agents

Phase 2, Phase 3

Immunologic Factors

Phase 2, Phase 3,Not Applicable

Antineoplastic Agents, Alkylating

Phase 2, Phase 3

Antirheumatic Agents

Phase 2, Phase 3

Antilymphocyte Serum

Phase 2, Phase 3

Calcium Carbonate

Approved, Investigational

Phase 2

471-34-1

Alendronate

Approved

Phase 2

66376-36-1, 121268-17-5

2088

Mycophenolic acid

Approved

Phase 2

24280-93-1

446541

Mesna

Approved, Investigational

Phase 2

3375-50-6

598

Miconazole

Approved, Investigational, Vet_approved

Phase 2

22916-47-8

4189

alemtuzumab

Approved, Investigational

Phase 2

216503-57-0

leucovorin

Approved

Phase 1, Phase 2,Phase 2

58-05-9

6006 143

Interventional clinical trials:

(show top 50) (show all 311)

#	Name	Status	NCT ID	Phase	Drugs
1	Evaluation of Efficacy and Safety of Agalsidase Beta in Heterozygous Females for Fabry Disease	Unknown status	NCT00487630	Phase 4	recombinant alpha-galactosidase A
2	Ophthalmic Findings During 10-year Enzyme Substitution of Danish Fabry Patients.	Completed	NCT01997489	Phase 4	Enzyme replacement
3	A Study Evaluating Glycosphingolipid Clearance in Patients Treated With Agalsidase Alfa Who Switch to Agalsidase Beta	Completed	NCT01650779	Phase 4
4	A Safety and Efficacy Study of Two Dose Levels of Taliglucerase Alfa in Pediatric Subjects With Gaucher Disease	Completed	NCT01132690	Phase 4	Taliglucerase alfa
5	A Multicenter Study of the Efficacy of Cerezyme in Testing Skeletal Disease in Patients With Type I Gaucher Disease.	Completed	NCT00365131	Phase 4	Cerezyme (imiglucerase for injection)
6	Safety and Efficacy of Cerezyme® Infusions Every 4 Weeks Versus Every 2 Weeks in Type 1 Gaucher Disease	Completed	NCT00364858	Phase 4	Cerezyme
7	A Safety and Efficacy Study of Fabrazyme® Replacement Therapy in Patients With Cardiac Fabry Disease	Completed	NCT00140621	Phase 4	Agalsidase beta
8	Replagal Enzyme Replacement Therapy for Adults With Fabry Disease	Completed	NCT00097890	Phase 4	Replagal (Agalsidase Alfa);Replagal
9	A Study of the Safety and Efficacy of Fabrazyme in Patients With Fabry Disease	Completed	NCT00081497	Phase 4
10	A Study of the Safety and Efficacy of Fabrazyme (Agalsidase Beta) as Compared to Placebo in Patients With Advanced Fabry Disease	Completed	NCT00074984	Phase 4
11	Rapid Intravenous Infusion of Velaglucerase Alfa (VPRIV) in Treatment-naive Patients With Type 1 Gaucher Disease	Recruiting	NCT03702361	Phase 4	VPRIV
12	Pharmacokinetics, Pharmacodynamics And Safety Study Of Elelyso(tm) In Pediatric Subjects With Type 1 Gaucher Disease	Recruiting	NCT03021941	Phase 4	Elelyso 60 units/kg
13	Study of the Effect of Velaglucerase Alfa (VPRIV®) on Bone-related Pathology in Treatment-naïve Participants With Type 1 Gaucher Disease	Recruiting	NCT02574286	Phase 4	Velaglucerase alfa
14	Synergistic Enteral Regimen for Treatment of the Gangliosidoses	Recruiting	NCT02030015	Phase 4	miglustat
15	Study of the Effects of Fabrazyme Treatment on Lactation and Infants	Recruiting	NCT00230607	Phase 4	agalsidase beta
16	Chronic Hepatitis C Treatment in Egyptian Children With Gaucher Disease.	Recruiting	NCT03721627	Phase 4	Ledipasvir/Sofosbuvir
17	The Effect of Velaglucerase Alfa (Vpriv) on Skeletal Development in Pediatric Gaucher Disease	Withdrawn	NCT02528617	Phase 4	Velaglucerase alfa
18	A Study in Patients With Fabry Disease Who Are on Chronic Hemodialysis Therapy for Treatment of End-stage Renal Insufficiency.	Withdrawn	NCT00312767	Phase 4	Fabrazyme (agalsidase beta)
19	Phase III Study of ISU302 in Patients With Type 1 Gaucher Disease	Completed	NCT02770625	Phase 3	ISU302
20	Multicenter Extension Study of Velaglucerase Alfa in Japanese Patients With Gaucher Disease	Completed	NCT01842841	Phase 3	velaglucerase alfa
21	Study of Velaglucerase Alfa Enzyme Replacement Therapy in Japanese Patients With Gaucher Disease	Completed	NCT01614574	Phase 3
22	A Multicenter Extension Study of Taliglucerase Alfa in Adult Subjects With Gaucher Disease	Completed	NCT01422187	Phase 3	Taliglucerase alfa
23	A Multicenter Extension Study of Taliglucerase Alfa in Pediatric Subjects With Gaucher Disease	Completed	NCT01411228	Phase 3	Taliglucerase alfa
24	A Multicenter Open-Label Treatment Protocol to Observe the Safety of Replagal (Agalsidase Alfa) Enzyme Replacement Therapy in Canadian Patients With Fabry Disease	Completed	NCT01298141	Phase 3
25	Study to Compare the Efficacy and Safety of Oral AT1001 and Enzyme Replacement Therapy in Patients With Fabry Disease	Completed	NCT01218659	Phase 3	migalastat hydrochloride
26	Extension Study of TKT028 Evaluating Safety and Clinical Outcomes of Replagal® in Adult Patients With Fabry Disease	Completed	NCT01124643	Phase 3
27	A Study of Eliglustat Tartrate (Genz-112638) in Patients With Gaucher Disease to Evaluate Once Daily Versus Twice Daily Dosing (EDGE)	Completed	NCT01074944	Phase 3	Eliglustat tartrate
28	A Study of Eliglustat Tartrate (Genz-112638) in Patients With Gaucher Disease Who Have Reached Therapeutic Goals With Enzyme Replacement Therapy (ENCORE)	Completed	NCT00943111	Phase 3	Eliglustat tartrate;Imiglucerase
29	Study of the Effects of Oral AT1001 (Migalastat Hydrochloride) in Patients With Fabry Disease	Completed	NCT00925301	Phase 3	migalastat hydrochloride;Placebo
30	A Study of Eliglustat Tartrate (Genz-112638) in Patients With Gaucher Disease (ENGAGE)	Completed	NCT00891202	Phase 3	Eliglustat tartrate;Placebo
31	Safety and Efficacy Study of Several Replagal Dosing Regimens on Cardiac Function in Adults With Fabry Disease	Completed	NCT00864851	Phase 3
32	Switchover Trial From Imiglucerase to Plant Cell Expressed Recombinant Human Glucocerebrosidase	Completed	NCT00712348	Phase 3	Taliglucerase alfa
33	Plant Cell Expressed Recombinant Human Glucocerebrosidase Extension Trial	Completed	NCT00705939	Phase 3	Taliglucerase alfa
34	A Study of Two Fabrazyme (Agalsidase Beta) Dosing Regimens in Treatment-naïve, Male Pediatric Patients Without Severe Symptoms	Completed	NCT00701415	Phase 3
35	Pharmacokinetics, Safety and Tolerability of Zavesca (Miglustat) in Patients With Infantile Onset Gangliosidosis: Single and Steady State Oral Doses	Completed	NCT00672022	Phase 3	Zavesca (Miglustat)
36	An Open-Label Extension Study of GA-GCB ERT in Patients With Type 1 Gaucher Disease	Completed	NCT00635427	Phase 3
37	Study of Gene-Activated® Human Glucocerebrosidase (GA-GCB) ERT Compared With Imiglucerase in Type I Gaucher Disease	Completed	NCT00553631	Phase 3
38	Study of GA-GCB Enzyme Replacement Therapy in Type 1 Gaucher Disease Patients Previously Treated With Imiglucerase	Completed	NCT00478647	Phase 2, Phase 3
39	A Study of Gene-Activated® Human Glucocerebrosidase (GA-GCB) Enzyme Replacement Therapy in Gaucher Disease	Completed	NCT00430625	Phase 3
40	A Phase III Trial to Assess the Safety and Efficacy of Plant Cell Expressed GCD in Patients With Gaucher Disease	Completed	NCT00376168	Phase 3	Plant cell expressed recombinant glucocerebrosidase (prGCD);Plant cell expressed recombinant glucocerebrosidase (prGCD)
41	Clinical Study to Evaluate the Long Term Efficacy, Safety and Tolerability of Miglustat in Patients With Stable Type 1 Gaucher Disease	Completed	NCT00319046	Phase 3	Miglustat
42	Stem Cell Transplant for Inborn Errors of Metabolism	Completed	NCT00176904	Phase 2, Phase 3	Busulfan, Cyclophosphamide, Antithymocyte Globulin
43	A Study of the Safety and Efficacy of Fabrazyme in Patients With Fabry Disease	Completed	NCT00074971	Phase 3	Fabrazyme (agalsidase beta)
44	Application of Miglustat in Patients With Niemann-Pick Type C	Completed	NCT01760564	Phase 3	Miglustat
45	A Study to Evaluate the Long-term Safety and Tolerability of Lucerastat in Adult Subjects With Fabry Disease	Recruiting	NCT03737214	Phase 3	Lucerastat
46	Safety, Pharmacokinetics, Pharmacodynamics, and Efficacy of Migalastat in Pediatric Subjects (Aged 12 to <18 Years)	Recruiting	NCT03500094	Phase 3	migalastat HCl 150 mg
47	Safety and Efficacy of Eliglustat With or Without Imiglucerase in Pediatric Patients With Gaucher Disease (GD) Type 1 and Type 3	Recruiting	NCT03485677	Phase 3	Eliglustat GZ385660;Imiglucerase GZ437843
48	Efficacy and Safety of Lucerastat Oral Monotherapy in Adult Subjects With Fabry Disease	Recruiting	NCT03425539	Phase 3	Lucerastat;Placebo
49	Study of the Safety, Efficacy, & PK of Pegunigalsidase Alfa (PRX-102) 2 mg/kg IV Administered Every 4 Weeks in Fabry Disease Patients	Recruiting	NCT03180840	Phase 3
50	Study of the Safety and Efficacy of PRX-102 Compared to Agalsidase Beta on Renal Function	Recruiting	NCT02795676	Phase 3

Search NIH Clinical Center for Sphingolipidosis

Cochrane evidence based reviews: sphingolipidoses

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Genetic Tests for Sphingolipidosis

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Anatomical Context for Sphingolipidosis

MalaCards organs/tissues related to Sphingolipidosis:

⁴¹

Brain, Skin, Kidney, Spinal Cord, Eye

Sources

Publications for Sphingolipidosis

Articles related to Sphingolipidosis:

(show top 50) (show all 77)

#	Title	Authors	Year
1	Niemann-Pick type C disease: The atypical sphingolipidosis. ( 30205942 )	Newton J...Spiegel S	2018
2	In Silico Analysis of Missense Mutations as a First Step in Functional Studies: Examples from Two Sphingolipidoses. ( 30384423 )	Duarte AJ...Amaral O	2018
3	Diagnosis of sphingolipidoses: a new simultaneous measurement of lysosphingolipids by LC-MS/MS. ( 27533120 )	Polo G...Burlina AB	2017
4	LC-MS/MS multiplex analysis of lysosphingolipids in plasma and amniotic fluid: A novel tool for the screening of sphingolipidoses and Niemann-Pick type C disease. ( 28749998 )	Pettazzoni M...Cheillan D	2017
5	Recent advances and novel treatments for sphingolipidoses. ( 28857617 )	Arenz C	2017
6	Heat shock protein-based therapy as a potential candidate for treating the sphingolipidoses. ( 27605553 )	Kirkegaard T...Platt FM	2016
7	Fluid levity of the cell: Role of membrane lipid architecture in genetic sphingolipidoses. ( 27638586 )	D'Auria L...Bongarzone ER	2016
8	Synaptic failure: The achilles tendon of sphingolipidoses. ( 27638588 )	Cantuti-Castelvetri L...Bongarzone ER	2016
9	Tandem Mass Spectrometry of Sphingolipids: Applications for Diagnosis of Sphingolipidoses. ( 27717417 )	Kucha? L...Ledvinov? J	2016
10	Visualization of the heterogeneous membrane distribution of sphingomyelin associated with cytokinesis, cell polarity, and sphingolipidosis. ( 25389132 )		2014
11	From sheep to mice to cells: tools for the study of the sphingolipidoses. ( 24607565 )	Zigdon H...Futerman AH	2014
12	Sustained activation of sphingomyelin synthase by 2-hydroxyoleic acid induces sphingolipidosis in tumor cells. ( 23471028 )		2013
13	Metabolic and cellular bases of sphingolipidoses. ( 24256255 )	Sandhoff K	2013
14	My journey into the world of sphingolipids and sphingolipidoses. ( 23229750 )	Sandhoff K	2012
15	Kunihiko Suzuki and sphingolipidoses. ( 22130736 )	Ohno K	2011
16	Altered expression and distribution of cathepsins in neuronopathic forms of Gaucher disease and in other sphingolipidoses. ( 20616152 )	Vitner EB...Futerman AH	2010
17	Pathology and current treatment of neurodegenerative sphingolipidoses. ( 20730629 )	Eckhardt M	2010
18	Arsenic induces oxidative stress, sphingolipidosis, depletes proteins and some antioxidants in various regions of rat brain. ( 18604117 )	Haider S.S....Najar M.S.	2008
19	Rab8-dependent recycling promotes endosomal cholesterol removal in normal and sphingolipidosis cells. ( 17050734 )	Linder M.D....Ikonen E.	2007
20	Recent advances in the biochemistry and genetics of sphingolipidoses. ( 15533650 )	Ozkara HA	2004
21	A historical perspective of the glycosphingolipids and sphingolipidoses. ( 12803932 )	Watts RW	2003
22	Application of delayed extraction matrix-assisted laser desorption ionization time-of-flight mass spectrometry for analysis of sphingolipids in cultured skin fibroblasts from sphingolipidosis patients. ( 11934514 )	Fujiwaki T....Taketomi T.	2002
23	A novel mutation in the coding region of the prosaposin gene leads to a complete deficiency of prosaposin and saposins, and is associated with a complex sphingolipidosis dominated by lactosylceramide accumulation. ( 11309366 )	Hulkova H....Elleder M.	2001
24	Application of delayed extraction matrix-assisted laser desorption ionization time-of-flight mass spectrometry for analysis of sphingolipids in tissues from sphingolipidosis patients. ( 10491988 )		1999
25	Outlook for screening for sphingolipidoses. ( 10489940 )	Winchester B	1999
26	Recent advances in the biochemistry of sphingolipidoses. ( 9458169 )	Kolter T...Sandhoff K	1998
27	Therapy for the sphingolipidoses. ( 9708954 )	Brady RO	1998
28	Utility of serum lysosomal enzyme assay in the detection of cerebral sphingolipidoses in patients with progressive neurologic dysfunction. ( 23100874 )	Christopher R...Shetty KT	1997
29	Diagnosing sphingolipidoses in murine and human embryos. ( 8473438 )	Epstein M...Laufer N	1993
30	Inhibition of calcium-activated, phospholipid-dependent protein kinase (protein kinase C) activity in sphingolipidoses. ( 1770800 )	Boneh A	1991
31	Feline sphingolipidosis resembling Niemann-Pick disease type C. ( 2127982 )	Lowenthal A.C....de Lahunta A.	1990
32	Sphingolipid activator protein deficiency in a 16-week-old atypical Gaucher disease patient and his fetal sibling: biochemical signs of combined sphingolipidoses. ( 2514102 )	Harzer K...Popp M	1989
33	Enzymatic diagnosis of sphingolipidoses. ( 2885713 )	Suzuki K	1987
34	Lysosphingolipids inhibit protein kinase C: implications for the sphingolipidoses. ( 3101176 )	Hannun YA...Bell RM	1987
35	Lipid storage disease: Part II. Ultrastructural pathology of lipid storage cells in sphingolipidoses. ( 2992227 )	Takahashi K...Naito M	1985
36	Application of "high-performance" liquid chromatography to the study of sphingolipidoses. ( 6773701 )	Ullman MD...Kolodny EH	1980
37	Basic findings and current developments in sphingolipidoses. ( 108196 )	Pilz H...Seidel D	1979
38	Enzymic diagnosis of sphingolipidoses. ( 26837 )	Suzuki K	1978
39	Sphingolipidoses: molecular manifestations and biochemical strategies. ( 96198 )	Pentchev PG...Barranger JA	1978
40	Diagnosis of the sphingolipidoses with labelled natural substrates. ( 96667 )	Svennerholm L	1978
41	Progress in investigations of sphingolipidoses. ( 97916 )	Adachi M...Volk BW	1978
42	Sphingolipidoses. ( 98102 )	Brady RO	1978
43	Clinical and biochemical pathophysiology of ataxia in the sphingolipidoses. ( 104554 )	Philippart M	1978
44	Isolation and characterization of cytoplasmic inclusion bodies from the grey matter of the formalin-fixed brain from new case of generalized sphingolipidosis with failure of myelination. ( 194074 )		1977
45	Sphingolipidoses and allied disorders. ( 132847 )	Crocker AC	1976
46	Simple ultra-microtechniques for genetic complementation analysis and early prenatal diagnosis of sphingolipidoses. ( 820166 )	H?sli P	1976
47	Chemical models and chemotherapy in the sphingolipidoses. ( 820172 )	Radin NS	1976
48	Enzyme replacement therapy for the sphingolipidoses. ( 820173 )	Brady RO...Dekaban AS	1976
49	Specificities of the two genetically distinct beta-galactosidases in human sphingolipidoses. ( 821399 )	Tanaka H...Suzuki K	1976
50	Deficient Ganglioside Biosynthesis: a novel human sphingolipidosis. ( 803227 )	Fishman P.H....Cornblath M.	1975

Sources

Genes for Sphingolipidosis

Genes related to Sphingolipidosis (0 elite genes):

(show all 19)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	PSAP	Prosaposin	Protein Coding	34.13	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Publications (show sections)	9821868 9225972 11309366
2	GBA	Glucosylceramidase Beta	Protein Coding	30.57	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵	15937950 15146461 19857976 (more) 1776640 10679038 9240741 9225972
3	NPC1	NPC Intracellular Cholesterol Transporter 1	Protein Coding	28.97	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵	18579730
4	GALC	Galactosylceramidase	Protein Coding	28.01	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵	2034480 8101401
5	ARSA	Arylsulfatase A	Protein Coding	27.74	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵	18360747
6	GLA	Galactosidase Alpha	Protein Coding	27.66	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders (show sections)
7	GBA3	Glucosylceramidase Beta 3 (Gene/Pseudogene)	Protein Coding	22.73	DISEASES inferred ¹⁵ ¹⁵
8	HEXA	Hexosaminidase Subunit Alpha	Protein Coding	19.22	DISEASES inferred ¹⁵
9	GLB1	Galactosidase Beta 1	Protein Coding	18.88	DISEASES inferred ¹⁵
10	MCOLN1	Mucolipin 1	Protein Coding	18.59	DISEASES inferred ¹⁵
11	NPC2	NPC Intracellular Cholesterol Transporter 2	Protein Coding	18.44	DISEASES inferred ¹⁵
12	SMPD1	Sphingomyelin Phosphodiesterase 1	Protein Coding	18.39	DISEASES inferred ¹⁵
13	CTSA	Cathepsin A	Protein Coding	17.99	DISEASES inferred ¹⁵
14	SCARB2	Scavenger Receptor Class B Member 2	Protein Coding	17.9	DISEASES inferred ¹⁵
15	HEXB	Hexosaminidase Subunit Beta	Protein Coding	17.7	DISEASES inferred ¹⁵
16	ASAH2	N-Acylsphingosine Amidohydrolase 2	Protein Coding	16.61	Novoseek inferred ⁵⁵ GeneCards inferred via : Publications (show sections)	11934514 10491988
17	RAB8A	RAB8A, Member RAS Oncogene Family	Protein Coding	10.03	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
18	ADPRH	ADP-Ribosylarginine Hydrolase	Protein Coding	8.41	Novoseek inferred ⁵⁵	7477413
19	BECN1	Beclin 1	Protein Coding	7.77	Novoseek inferred ⁵⁵	17468177 17611388

Sources

Variations for Sphingolipidosis

Sources

Expression for Sphingolipidosis

Search GEO for disease gene expression data for Sphingolipidosis.

Sources

Pathways for Sphingolipidosis

Pathways related to Sphingolipidosis according to KEGG:

³⁷

#	Name	Kegg Source Accession
1	Sphingolipid metabolism	hsa00600
2	Lysosome	hsa04142

Pathways related to Sphingolipidosis according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Metabolism ⁶⁶ Show member pathways Metabolic pathways ³⁷ Metabolism of lipids and lipoproteins ⁶⁶	13.74	ARSA ASAH2 CTSA GALC GBA GBA3
2	Lysosome ³⁷	11.89	ARSA CTSA GALC GBA GLA GLB1
3	Sphingolipid metabolism ¹ ⁶⁶ ³⁷ Show member pathways ceramide de novo biosynthesis ¹ Glycosphingolipid metabolism ⁶⁶ Sphingolipid de novo biosynthesis ⁶⁶	11.8	ARSA ASAH2 CTSA GALC GBA GBA3
4	Galactose metabolism ²² ³⁷ Show member pathways D-galactose degradation V (Leloir pathway) ¹ Galactose catabolism ⁶⁶ GDP-glucose biosynthesis II ¹ Glycogen metabolism ²² Neomycin, kanamycin and gentamicin biosynthesis ³⁷ Starch and sucrose metabolism ³⁷ UDP-N-acetyl-D-galactosamine biosynthesis I ¹	11.74	GBA3 GLA GLB1
5	Keratan sulfate/keratin metabolism ⁶⁶ Show member pathways Glycosaminoglycan biosynthesis - keratan sulfate ³⁷ Keratan sulfate biosynthesis ⁶⁶ Keratan sulfate degradation ⁶⁶ lactose degradation III ¹	11.55	GLB1 HEXA HEXB
6	Globo Sphingolipid Metabolism ¹ Show member pathways Glycosphingolipid biosynthesis - globo and isoglobo series ³⁷	11.15	GLA HEXA HEXB
7	Glycosphingolipid biosynthesis - ganglio series ³⁷ Show member pathways Ganglio Sphingolipid Metabolism ¹	10.99	GLB1 HEXA HEXB
8	Glycosaminoglycan degradation ³⁷ Show member pathways Interaction With Cumulus Cells ⁶⁶	10.8	GLB1 HEXA HEXB
9	Other glycan degradation ³⁷	10.71	GBA GLB1 HEXA HEXB
10	Cholesterol and Sphingolipids transport / Distribution to the intracellular membrane compartments (normal and CF) ²² Show member pathways Cholesterol and Sphingolipids transport / Generic schema (normal and CF) ²²	10.6	NPC1 NPC2

Sources

GO Terms for Sphingolipidosis

Cellular components related to Sphingolipidosis according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	endosome	GO:0005768	9.88	ARSA BECN1 MCOLN1 NPC1 RAB8A SMPD1
2	lysosomal membrane	GO:0005765	9.8	CTSA GBA MCOLN1 NPC1 PSAP SCARB2
3	lysosome	GO:0005764	9.8	ARSA CTSA GALC GBA GLA GLB1
4	late endosome membrane	GO:0031902	9.63	MCOLN1 NPC1 SCARB2
5	azurophil granule lumen	GO:0035578	9.63	ARSA CTSA GLA GLB1 HEXB NPC2
6	azurophil granule	GO:0042582	9.43	HEXA HEXB
7	lysosomal lumen	GO:0043202	9.4	ARSA CTSA GALC GBA GLA GLB1
8	extracellular region	GO:0005576	10.07	ARSA ASAH2 CTSA GLA GLB1 HEXB
9	extracellular exosome	GO:0070062	10.07	ARSA CTSA GBA GLA GLB1 HEXA
10	extracellular space	GO:0005615	10.02	ARSA GBA GLB1 HEXB NPC2 PSAP

Biological processes related to Sphingolipidosis according to GeneCards Suite gene sharing:

(show all 22)

#	Name	GO ID	Score	Top Affiliating Genes
1	lipid metabolic process	GO:0006629	9.88	ASAH2 GALC GBA NPC1 NPC2 PSAP
2	neutrophil degranulation	GO:0043312	9.8	ARSA CTSA GLA GLB1 HEXB NPC2
3	autophagy	GO:0006914	9.78	ARSA BECN1 NPC1 RAB8A
4	carbohydrate metabolic process	GO:0005975	9.77	GBA3 GLA GLB1 HEXA HEXB
5	lipid transport	GO:0006869	9.74	NPC1 NPC2 PSAP
6	ceramide biosynthetic process	GO:0046513	9.61	GBA SMPD1
7	cholesterol transport	GO:0030301	9.6	NPC1 NPC2
8	positive regulation of protein dephosphorylation	GO:0035307	9.59	GBA SMPD1
9	cholesterol efflux	GO:0033344	9.58	NPC1 NPC2
10	low-density lipoprotein particle clearance	GO:0034383	9.58	NPC1 NPC2
11	hyaluronan catabolic process	GO:0030214	9.56	HEXA HEXB
12	chondroitin sulfate catabolic process	GO:0030207	9.55	HEXA HEXB
13	response to pH	GO:0009268	9.54	ARSA GBA
14	intracellular cholesterol transport	GO:0032367	9.52	NPC1 NPC2
15	sphingosine biosynthetic process	GO:0046512	9.51	ASAH2 GBA
16	keratan sulfate catabolic process	GO:0042340	9.5	GLB1 HEXA HEXB
17	metabolic process	GO:0008152	9.5	GALC GBA GLA GLB1 HEXA HEXB
18	glycoside catabolic process	GO:0016139	9.49	GBA3 GLA
19	glycosylceramide catabolic process	GO:0046477	9.46	GBA3 GLA
20	sphingolipid metabolic process	GO:0006665	9.46	ASAH2 GALC GBA PSAP
21	termination of signal transduction	GO:0023021	9.43	GBA SMPD1
22	glycosphingolipid metabolic process	GO:0006687	9.32	ARSA CTSA GALC GBA3 GLA GLB1

Molecular functions related to Sphingolipidosis according to GeneCards Suite gene sharing:

(show all 11)

#	Name	GO ID	Score	Top Affiliating Genes
1	hydrolase activity	GO:0016787	9.7	ADPRH ARSA ASAH2 CTSA GALC GBA
2	acetylglucosaminyltransferase activity	GO:0008375	9.49	HEXA HEXB
3	exo-alpha-sialidase activity	GO:0004308	9.46	CTSA GLB1
4	beta-N-acetylhexosaminidase activity	GO:0004563	9.43	HEXA HEXB
5	hydrolase activity, hydrolyzing O-glycosyl compounds	GO:0004553	9.43	GLA GLB1 HEXB
6	galactoside binding	GO:0016936	9.4	GLA GLB1
7	glucosylceramidase activity	GO:0004348	9.37	GBA GBA3
8	beta-galactosidase activity	GO:0004565	9.33	GBA3 GLB1 PSAP
9	N-acetyl-beta-D-galactosaminidase activity	GO:0102148	9.32	HEXA HEXB
10	hydrolase activity, acting on glycosyl bonds	GO:0016798	9.17	GALC GBA GLA GLB1 HEXA HEXB
11	protein binding	GO:0005515	10.38	ADPRH ARSA BECN1 GBA GBA3 GLA

Sources

Sources for Sphingolipidosis

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

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¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

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³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia